CK syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION
X-linked intellectual deficit - microcephaly - cortical malformation - thin habitus
Number of Symptoms 47
OrphanetNr: 251383
OMIM Id: 300831
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndrome with a central nervous system malformation as major feature
 -Rare genetic disease
Other syndrome with a central nervous system malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000347) Micrognathia 426 / 7739
2
 (HPO:0000275) Narrow face 76 / 7739
3
 (HPO:0000426) Prominent nasal bridge 121 / 7739
4
 (HPO:0000286) Epicanthus 371 / 7739
5
 (HPO:0000218) High palate 356 / 7739
6
 (HPO:0000252) Microcephaly 832 / 7739
7
 (HPO:0000678) Dental crowding 65 / 7739
8
 (HPO:0000272) Malar flattening 277 / 7739
9
 (HPO:0000276) Long face 109 / 7739
10
 (HPO:0007874) Almond-shaped palpebral fissure 4 / 7739
11
 (HPO:0000278) Retrognathia 100 / 7739
12
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
13
 (HPO:0000486) Strabismus 576 / 7739
14
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
15
 (HPO:0000752) Hyperactivity 140 / 7739
16
 (HPO:0001250) Seizures 1245 / 7739
17
 (HPO:0000750) Delayed speech and language development 197 / 7739
18
 (HPO:0000718) Aggressive behavior 109 / 7739
19
 (HPO:0002360) Sleep disturbance 113 / 7739
20
 (HPO:0001249) Intellectual disability 1089 / 7739
21
 (HPO:0001263) Global developmental delay 853 / 7739
22
 (HPO:0000737) Irritability 93 / 7739
23
 (HPO:0100785) Insomnia 18 / 7739
24
 (HPO:0002808) Kyphosis 289 / 7739
25
 (HPO:0011297) Abnormality of digit 4 / 7739
26
 (HPO:0002650) Scoliosis 705 / 7739
27
 (HPO:0003307) Hyperlordosis 122 / 7739
28
 (HPO:0001382) Joint hypermobility 231 / 7739
29
 (HPO:0003103) Abnormal cortical bone morphology 38 / 7739
30
 (HPO:0001533) Slender build 11 / 7739
31
 (HPO:0001519) Disproportionate tall stature 39 / 7739
32
 (HPO:0001290) Generalized hypotonia 51 / 7739
33
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
34
 (HPO:0001252) Muscular hypotonia 990 / 7739
35
 (HPO:0010547) Muscle flaccidity 466 / 7739
36
 (HPO:0001324) Muscle weakness 859 / 7739
37
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
38
 (OMIM) Asthenic build 1 / 7739
39
 (HPO:0002126) Polymicrogyria 64 / 7739
40
 (OMIM) Seizures, infantile onset 4 / 7739
41
 (HPO:0001302) Pachygyria 60 / 7739
42
 (OMIM) Normal serum cholesterol 1 / 7739
43
 (OMIM) Almond-shaped eyes 12 / 7739
44
 (OMIM) Thin body habitus 5 / 7739
45
 (OMIM) Long digits 3 / 7739
46
 (OMIM) Long narrow face 11 / 7739
47
 (OMIM) Cortical malformation 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) CK syndrome (CKS) is an X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. It is named after the first identified patient (summary by McLarren ...
Clinical Description OMIM Du Souich et al. (2009) reported a 5-generation family of Russian-Doukhobor descent with an X-linked recessive mental retardation syndrome. Affected boys had onset of seizures in the neonatal period and delayed psychomotor development associated with behavioral abnormalities, including ...
Molecular genetics OMIM In affected members of a 3-generation family with X-linked mental retardation, Tarpey et al. (2009) identified a 1-bp duplication in the NSDHL gene (300275.0007). In affected members of the original family with CK syndrome reported by du Souich ...